Varaico: Literature-Extracted Genetic Variants

Gene:CLDN7
Variant:p.Y149fs

CLDN7

41 papers

RefSeq Summary

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solute...

Pfam Domains

PMP22_Claudinaa 4–182UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 7

HGNC Previous Symbols

CEPTRL2; CPETRL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001307.6
p.Y149fs
c.445_446fs
Surrounding Variants
1 paper
NM_001307.6
p.Y149insFs
c.446_447insT
1 paper
NM_001307.6
p.F148S
c.443T>C
1 paper
NM_001307.6
p.D147N
c.439G>A
1 paper
NM_001307.6
p.P154A
c.460C>G
1 paper
NM_001307.6
p.L134V
c.400T>G
1 paper
NM_001307.6
p.E160K
c.478G>A
1 paper
NM_001307.6
p.E160E
c.480G>A
1 paper
NM_001307.6
p.G130Splc
c.388+2T>G
1 paper
NM_001307.6
p.F166_I167insFs
c.498_499insC
1 paper
NM_001307.6
p.I127_V128delFs
c.381_382delCG
1 paper
NM_001307.6
p.G168S
c.502G>A
1 paper
NM_001307.6
p.I127fs
c.379_380fs
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